**Patricia R Chess MDAssociate Professor Departments of Pediatrics (Neonatology) and Biomedical Engineering University of RochesterBirth RegistrarsCalling a Spade a SpadeThe Whys and Hows of Coding Birth Anomalies

OverviewWhy code?What to codeDescription of coded anomalies, how they are diagnosedReview of diagnostic screens used for codingIncidence of coded anomaliesUsing coded data for research

The ultimate goal is to optimize maternal-infant health and well-being

Why Code AnomaliesDetermine incidenceIs incidence changing, and if so, whyEstablish patterns (demographics/ epidemiology)Identify possible environmental, ethnic (genetic) or cultural linksAssess necessary resourcesProject future needs

Which Anomalies to CodeAnencephaly Meningomyelocele (aka spina bifida) Cyanotic congenital heart diseaseCongenital diaphragmatic herniaGastroschisisOmphaloceleLimb reduction defectsCleft lip +/- cleft palateDown Syndrome (+/- karyotype)Other Chromosomal Disorder (+/- karyotype)Hypospadias

AnencephalyLacking the cortex (thinking, motor part of the brain) brainstem present (controls reflex neurologic functions such as breathing)Diagnosed prenatally if USG performed

Neural Tube DefectsSpina BifidaMost detected prenatally, otherwise at birthDecreased incidence with folic acid supplementation

Cyanotic Congenital Heart Disease blue baby, diagnosed by fetal or postnatal cardiac ECHO, usually needs prostaglandins to surviveTetralogy of Fallot with significant pulmonic stenosisTotal Anomalous Pulmonary Venous ReturnTransposition of the Great VesselsTricuspid AtresiaTruncusHypoplastic Left heart

Congenital Diaphragmatic HerniaUsually detected prenatally, confirmed by chest x-rayIntestines herniating into chest cavity though hole in diaphragmNormal

GastroschisisIsolated herniation of intestines through defect in abdominal wall, usually diagnosed prenatally by USG

OmphaloceleIntestines within umbilical cord, frequently has other anomalies (CHD, chromosomal anomalies), frequently diagnosed prenatally by USG

Limb Reduction Defectfrequently diagnosed prenatally by USGThalidomideAmniotic Banding DwarfismChicken Pox (not coded)(not coded)TAR Syndromeshortened limbs, fingers/toes present

Cleft lip +/- Cleft palateUsually diagnosed at birth

Cleft Palate AloneUsually diagnosed at birth

Down SyndromeHigh diagnostic sensitivity of prenatal USG and triple screenConfirmed by chromosomes from amnio or post delivery

Other Chromosomal AnomaliesTrisomy 13, 18 most commonCould be suspected on USG, diagnosed by chromosomes from CVS, amniocentesis or after birth (exam leads to clinical diagnosis, chromosomes confirm)

Trisomy 13Midline defects commonSyndactyly- fingers, toes not normally separatedCleft lip, small for gestational ageCutis aplasia- skin defect on scalpExtra chromosome 13

Trisomy 18Small for gestational ageOverriding fingersRocker bottom feetExtra chromosome 18

HypospadiasEnd of urethra does not end at tip of penis.Detected on physical exam, not prenatally

What is a level II Ultrasound?Level I- Is there a baby and is there a heartbeat? eg: quick scan in the EDLevel II- Are there all the necessary organs and do they look normal? eg: 16 week anatomic scan in the OBs officeLevel III- If the organs dont look normal, what exactly is wrong with them?eg: referral to GCHaS for fetal ECHO by Pediatric Cardiologist

Other Screening Tests CodedMSAFP/ triple screen: Maternal blood work with norms established MSAFP: maternal serum - feto proteinLow in trisomy 21 (T21), aneuploidyElevated in neural tube defects, ventral wall defects, tumors, dermatologic disorders, congenital nephrosis hCG: human chorionic gonadotropinElevated in T21uE 3: unconjugated estriolLow in T21IH-A: inhibin A (quad screen)Elevated in T21Chorionic Villous Sample (CVS): chromosomes determined on cells from chorionic tissue early in pregnancyAmniocentesis: chromosomes determined from cells in amniotic fluid in second/ third trimester

Incidence of Coded AnomaliesAnencephaly: 1/68,000 birthsMeningomyelocele (aka spina bifida) 1996: 10.5/ 10,000 livebirths2003: 5/10,000Congenital heart disease: 8/1000, 15% cyanoticCongenital diaphragmatic hernia: 1/2200Gastroschisis1997: 2.9/10002001: 5/1000Omphalocele: 1/4000

Incidence (continued)Limb reduction defects: 659/1.2 millionCleft lip + cleft palate: 1/1000Cleft palate alone: 1:500Down Syndrome: 1/800Other Chromosomal DisorderTrisomy 13: 1/5000Trisomy 18: 1/3000Hypospadias: 1970s: 1/250 boys1990s: 1/125 boys

Research Using Database DataUses de-identified dataEach research project reviewed by hospital-based institutional review boardResults often provide information that can help identify trends and improve health care for future patientsCritical to have accurate data

T Stevens et alExample of using database to determine population statistics

Risk of RSV-related Hospitalization Among Infants 32-35 Weeks GestationNRSV-hosp Rate (%)Lower 95% CIUpper 95% CINNTOverall6522.91.664.2145Mat tobacco during preg.1514.641.248.0328Exclusively formula fed at discharge2273.961.106.5233One or more living siblings3643.851.865.8334Multiple gestation1383.620.476.7836Maternal tobacco & > 1 sib986.121.2910.9521Exclusively formula fed & > 1 sib1524.611.247.9828Mat tobacco and exclusively formula fed755.330.1310.5425

If there is a significant birth defect present that is not currently coded, hospital required to report to NYS Congenital Malformations Registry 518-402-7990

Accurate coding of birth registry data provides information which can help establish the need for services and can be used to identify potential causal links to suboptimal outcomes and suggest future interventions to optimize health in newborns.